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Phenotypes Associated with This Genotype
Genotype
MGI:5817760
Allelic
Composition
Ednram1Mhda/Ednra+
Genetic
Background
C3HeB/FeJ-Ednram1Mhda
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ednram1Mhda mutation (1 available); any Ednra mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• acoustic startle reactivity is decreased

craniofacial
• bones of the skull are misshaped or underdeveloped
• the petrosal bone shows abnormal closure of the ringbone and abnormally shaped incudo-malleal joints
• absence of the zygomatic process of the squamosal bone in some mice; in this instance, the zygomatic bone appears fused without any suture
• in some mice, the zygomatic process of the squamosal bone is present but with a gap to the zygomatic bone
• shortening of the mandible by 8.1%
• three mice show micrognathia by mandibular shortening (8.1%) of the diastema
• shape of the zygomatic bone is abnormal in mice in which the zygomatic process of the squamosal bone is absent
• one mouse showed a minor malocclusion
• the short process of the incus is missing
• malleal bodies are slimmer with planar-shaped facets

hearing/vestibular/ear
• the short process of the incus is missing
• malleal bodies are slimmer with planar-shaped facets
• auditory brainstem response thresholds are increased
• mild hearing impairment

nervous system
• decrease in prepulse inhibition at all prepulse intensities

respiratory system
• mice exhibit decreased volumetric parameters in lung function analysis for expiratory reserve volume
• decrease in inspiratory capacity
• decrease in vital capacity

skeleton
• bones of the skull are misshaped or underdeveloped
• the petrosal bone shows abnormal closure of the ringbone and abnormally shaped incudo-malleal joints
• absence of the zygomatic process of the squamosal bone in some mice; in this instance, the zygomatic bone appears fused without any suture
• in some mice, the zygomatic process of the squamosal bone is present but with a gap to the zygomatic bone
• shortening of the mandible by 8.1%
• three mice show micrognathia by mandibular shortening (8.1%) of the diastema
• shape of the zygomatic bone is abnormal in mice in which the zygomatic process of the squamosal bone is absent
• one mouse showed a minor malocclusion
• the short process of the incus is missing
• malleal bodies are slimmer with planar-shaped facets

integument
N
• mice do not exhibit alopecia

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
mandibulofacial dysostosis with alopecia DOID:0060365 OMIM:616367
J:237903


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory